Unexplained young onset end-stage renal disease
Gene: COQ2
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 4 Aug 2016, 12:04 p.m.
Comment on phenotypes: Also associated with {Multiple system atrophy, susceptibility to} 146500Created: 4 Aug 2016, 12:04 p.m.
Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panelCreated: 17 Jun 2016, 9:12 a.m.
Comment on list classification: Promoted from Red to Green because this gene is Green on the Proteinuric renal disease gene panelCreated: 17 Jun 2016, 8:38 a.m.
Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1 301050 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
gene: COQ2 was added gene: COQ2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1 301050